Mutation:BRCA1
From Proteopedia
(Difference between revisions)
Sequence
⎈ mutations with manual annotation;pathogenic;benign;not yet reviewed;
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<StructureSection load='' size='340' side='right' caption='' scene=''> | <StructureSection load='' size='340' side='right' caption='' scene=''> | ||
- | '''Some interesting mutation | + | '''Some interesting mutation examples''': |
* [http://proteopedia.org/w/Mutation:BRCA1?res=39&mut=R Cys39Arg] | * [http://proteopedia.org/w/Mutation:BRCA1?res=39&mut=R Cys39Arg] |
Revision as of 10:05, 13 June 2019
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References
- ↑ Clapperton JA, Manke IA, Lowery DM, Ho T, Haire LF, Yaffe MB, Smerdon SJ. Structure and mechanism of BRCA1 BRCT domain recognition of phosphorylated BACH1 with implications for cancer. Nat Struct Mol Biol. 2004 Jun;11(6):512-8. Epub 2004 May 9. PMID:15133502 doi:10.1038/nsmb775
- ↑ Yue P, Li Z, Moult J. Loss of protein structure stability as a major causative factor in monogenic disease. J Mol Biol. 2005 Oct 21;353(2):459-73. PMID:16169011 doi:http://dx.doi.org/10.1016/j.jmb.2005.08.020
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